Canonical Allele Identifier: CA321324135
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs576046351
MyVariant Identifiers: chr21:g.43416518C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416518C>T , CM000683.2:g.43416518C>T GRCh38
NG_052009.1:g.15615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.*224G>A MANE Select ENSP00000270162.6:n.*224G>A
ENST00000270162.6:c.*224G>A ENSP00000270162.6:n.*224G>A
NM_173354.3:c.*224G>A NP_775490.2:n.*224G>A
XM_011529474.1:c.*224G>A XP_011527776.1:n.*224G>A
NM_173354.4:c.*224G>A NP_775490.2:n.*224G>A
XM_011529474.2:c.*224G>A XP_011527776.1:n.*224G>A
NM_173354.5:c.*224G>A MANE Select NP_775490.2:n.*224G>A
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